715990006: Agenesis of cerebellum and hydrocephalus syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Hydrocephalus\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly

\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly

\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cerebellum agenesis with hydrocephaly
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cerebellum agenesis with hydrocephaly
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disease\Developmental disorder\Developmental hereditary disorder\Cerebellum agenesis with hydrocephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Cerebellum agenesis with hydrocephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Cerebellum agenesis with hydrocephaly

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304350015 Cerebellum agenesis with hydrocephaly en Synonym Active Case insensitive SNOMED CT core

3304351016 Agenesis of cerebellum and hydrocephalus syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3304352011 Agenesis of cerebellum and hydrocephalus syndrome en Synonym Active Case insensitive SNOMED CT core

3304353018 This syndrome has features of infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy also reported. It has been described in four patients from two families. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebellum agenesis with hydrocephaly	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cerebellum agenesis with hydrocephaly	Occurrence	Congenital	true	Inferred relationship	Some	1
Cerebellum agenesis with hydrocephaly	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cerebellum agenesis with hydrocephaly	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	1
Cerebellum agenesis with hydrocephaly	Finding site	Brain CSF pathway	true	Inferred relationship	Some	1
Cerebellum agenesis with hydrocephaly	Associated morphology	Agenesis	true	Inferred relationship	Some	2
Cerebellum agenesis with hydrocephaly	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Cerebellum agenesis with hydrocephaly	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cerebellum agenesis with hydrocephaly	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Cerebellum agenesis with hydrocephaly	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
Cerebellum agenesis with hydrocephaly	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Cerebellum agenesis with hydrocephaly	Is a	Agenesis of cerebellum	true	Inferred relationship	Some
Cerebellum agenesis with hydrocephaly	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Cerebellum agenesis with hydrocephaly	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Cerebellum agenesis with hydrocephaly	Occurrence	Congenital	true	Inferred relationship	Some	2
Cerebellum agenesis with hydrocephaly	Finding site	Entire cerebellum	true	Inferred relationship	Some	2
Cerebellum agenesis with hydrocephaly	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	3
Cerebellum agenesis with hydrocephaly	Occurrence	Congenital	false	Inferred relationship	Some	3
Cerebellum agenesis with hydrocephaly	Finding site	Brain CSF pathway	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304350015	Cerebellum agenesis with hydrocephaly	en	Synonym	Active	Case insensitive	SNOMED CT core
3304351016	Agenesis of cerebellum and hydrocephalus syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304352011	Agenesis of cerebellum and hydrocephalus syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304353018	This syndrome has features of infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy also reported. It has been described in four patients from two families.	en	Definition	Active	Case sensitive	SNOMED CT core